Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. 24561134

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. 24400172

2013
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Functional interactions between KCNE1 C-terminus and the KCNQ1 channel. 19340287

2009
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Intracellular domains interactions and gated motions of I(KS) potassium channel subunits. 19521339

2009
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels. 19008479

2008
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 16818210

2006
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 12566567

2003
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1. 11320260

2001
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165

1998
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 9354802

1997
Entrez Id: 3753
Gene Symbol: KCNE1
KCNE1
CUI: C1141890
Disease: Congenital long QT syndrome
Congenital long QT syndrome 		0.170 GeneticVariation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997